Jacobsen syndrome

by Grossfeld Paul, Perrotta Concetta, Mattina Teresa
Published 2009-03-01

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

by Travali Salvatore, Rappazzo Giancarlo, Castiglia Lucia, Musso Nicolò, Fichera Marco, Ragusa Angela, Barresi Vincenza, Mattina Teresa, Romano Corrado, Cocchi Guido, Condorelli Daniele F
Published 2010-07-01

Mutation spectrum of <it>MLL2 </it>in a cohort of kabuki syndrome patients

by Renieri Alessandra, Prontera Paolo, Priolo Manuela, Patricelli Maria G, Melis Daniela, Mattina Teresa, Lapi Elisabetta, Garavelli Livia, Fischetto Rita, Ferrari Paola, Daolio Cecilia, Douzgou Sofia, Clementi Maurizio, Bonfante Aldo, Accadia Maria, Forzano Francesca, Faravelli Francesca, Dallapiccola Bruno, Digilio Maria C, Calcagnì Alessia, Belligni Elga, D'Addetta Ester V, Zucchetti Federica, Gumiero Barbara, Reymond Alexandre, Silengo Margherita, Loviglio Maria N, Selicorni Angelo, Fusco Carmela, Augello Bartolomeo, Micale Lucia, Mencarelli Maria A, Scarano Gioacchino, Monica Matteo, Toschi Benedetta, Turolla Licia, Vancini Alessandra, Zatterale Adriana, Gabrielli Orazio, Zelante Leopoldo, Merla Giuseppe
Published 2011-06-01